Canonical Allele Identifier: CA1143460094

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790853C= , CM000663.2:g.11790853C=	GRCh38
NC_000001.10:g.11850910C= , CM000663.1:g.11850910C=	GRCh37
NC_000001.9:g.11773497C=	NCBI36
NG_013351.1:g.20251G= , LRG_726:g.20251G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1921G=	ENSP00000365770.1:p.Glu641=
ENST00000376590.9:c.1798G= MANE Select	ENSP00000365775.3:p.Glu600=
ENST00000376592.6:c.1798G=	ENSP00000365777.1:p.Glu600=
ENST00000423400.7:c.1918G=	ENSP00000398908.3:p.Glu640=
ENST00000641407.1:c.1753-137G=	ENSP00000493098.1:n.1753-137G=
ENST00000641446.1:c.*257G=	ENSP00000493262.1:n.*257G=
ENST00000641747.1:c.*1310G=	ENSP00000493116.1:n.*1310G=
ENST00000641759.1:n.2167G=
ENST00000641805.1:n.2270-137G=
ENST00000641820.1:c.1063G=	ENSP00000492937.1:p.Glu355=
ENST00000376583.7:c.1921G=	ENSP00000365767.3:p.Glu641=
ENST00000376585.5:c.1921G=	ENSP00000365770.1:p.Glu641=
ENST00000376590.7:c.1798G=	ENSP00000365775.3:p.Glu600=
ENST00000376592.5:c.1798G=	ENSP00000365777.1:p.Glu600=
NM_005957.4:c.1798G= , LRG_726t1:c.1798G=	NP_005948.3:p.Glu600=
XM_005263458.2:c.1921G=	XP_005263515.1:p.Glu641=
XM_005263460.3:c.1798G=	XP_005263517.1:p.Glu600=
XM_005263461.3:c.1798G=	XP_005263518.1:p.Glu600=
XM_005263462.3:c.1798G=	XP_005263519.1:p.Glu600=
XM_005263463.2:c.1552G=	XP_005263520.1:p.Glu518=
XM_011541495.1:c.1918G=	XP_011539797.1:p.Glu640=
XM_011541496.1:c.1876-137G=	XP_011539798.1:n.1876-137G=
NM_001330358.1:c.1921G=	NP_001317287.1:p.Glu641=
XM_005263460.5:c.1798G=	XP_005263517.1:p.Glu600=
XM_005263462.4:c.1798G=	XP_005263519.1:p.Glu600=
XM_005263463.4:c.1552G=	XP_005263520.1:p.Glu518=
XM_011541495.3:c.1918G=	XP_011539797.1:p.Glu640=
XM_011541496.3:c.1876-137G=	XP_011539798.1:n.1876-137G=
XM_017001328.2:c.1876-105G=	XP_016856817.1:n.1876-105G=
XM_024447198.1:c.1552G=	XP_024302966.1:p.Glu518=
XR_002956640.1:n.2854-137G=
NM_005957.5:c.1798G= MANE Select	NP_005948.3:p.Glu600=
NM_001330358.2:c.1921G=	NP_001317287.1:p.Glu641=